Rs1799889

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Orientationplus
is asnp
is mentioned by
dbSNPrs1799889
PheGenIrs1799889
nextbiors1799889
hapmaprs1799889
1000 genomesrs1799889
hgdprs1799889
ensemblrs1799889
gopubmedrs1799889
geneviewrs1799889
scholarrs1799889
googlers1799889
pharmgkbrs1799889
gwascentralrs1799889
openSNPrs1799889
23andMers1799889
23andMe allrs1799889
SNP Nexus

SNPshotrs1799889
SNPdbers1799889
MSV3drs1799889
GeneSERPINE1
Chromosome7
Orientationplus
Position101126430
ReferenceGRCh38 38.1/141
Max Magnitude
Geno Mag Summary
(-;-) MI risk
(-;G) MI risk?
(G;G) risk for aneurysms?
rs1799889 is an insertion/deletion polymorphism in the promoter region of the SERPINE1 gene, which is also known as plasminogen activator inhibitor type 1 (or PAI1 or PAI-1). [There are several entries in dbSNP covering this same position; the one here in SNPedia is the one with population frequency.] The most common allele has a run of 5 G's in the area around this SNP, and in the literature the allele is commonly called the 5G allele. A deletion of one nucleotide leads to the "4G" allele, i.e. rs1799889(-).

The 4G allele has been reported to increase risk for atherosclerosis and coronary artery disease [PMID 9484978]; on the other hand, the 5G allele may increase the risk of abdominal aortic aneurysm (AAA). [PMID 10805895]

In combination with the A2 allele of the ITGB3 gene, rs5918, the increased risk of myocardial infarction in a Finnish study population was 4 fold higher (odds ratio = 4.5, p=0.001), particularly in males (odds ratio = 6.4, p=0.0005) [PMID 9700201].

OMIM173360
DescPLASMINOGEN ACTIVATOR INHIBITOR POLYMORPHISM
Variant0002
Relatedalso
Neighborrs1799762
Distance2

[PMID 20737565] Association of PAI-1 gene polymorphism with survival and chemotherapy-related vascular toxicity in testicular cancer


[PMID 21752301OA-icon.png] Significant associations of PAI-1 genetic polymorphisms with osteonecrosis of the femoral head

[PMID 21761413] Genetic polymorphism of the plasminogen activator inhibitor-1 is associated with an increased risk of endometrial cancer[PMID 16424345] Plasminogen activator inhibitor-1 gene: selection of tagging single nucleotide polymorphisms and association with coronary heart disease.

[PMID 17761618OA-icon.png] 4G/5G plasminogen activator inhibitor-1 polymorphisms and haplotypes are associated with pneumonia.

[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

[PMID 19368854] No association between the promoter polymorphisms of PAI-1 gene and sporadic Alzheimer's disease in Chinese Han population.

[PMID 19387820OA-icon.png] Genetic polymorphisms of FSHR, CYP17, CYP1A1, CAPN10, INSR, SERPINE1 genes in adolescent girls with polycystic ovary syndrome.

[PMID 19526059OA-icon.png] Polymorphic variation of genes in the fibrinolytic system and the risk of ovarian cancer.

[PMID 21385363OA-icon.png] Polymorphisms in genes controlling inflammation and tissue repair in rheumatoid arthritis: a case control study.

[PMID 21422408] Clotting factor gene polymorphisms and colorectal cancer risk.

[PMID 22503724] Promoter polymorphisms of SERPINE1 are associated with the antidepressant response to depression in Alzheimer's disease.

GET Evidence
rs1799889
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency
summary



[PMID 23570848] tPA Alu (I/D) polymorphism associates with bacterial osteomyelitis

[PMID 23941979] Association of Genetic Polymorphisms With Histological Grading of Necroinflammation, Staging of Fibrosis, and Liver Function in Mexicans With Chronic Hepatitis C Virus Infection

[PMID 24355042] Association of five common polymorphisms in the plasminogen activator inhibitor-1 gene with primary ovarian insufficiency [PMID 23180602] Association between the SERPINE1 (PAI-1) 4G/5G insertion/deletion promoter polymorphism (rs1799889) and pre-eclampsia: a systematic review and meta-analysis.

[PMID 25020710] P324Circadian genes in the regulation of lipids in coronary artery disease